Congenital myasthenic syndrome 9
Congenital myasthenic syndrome 9
Definition
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.
Also known as CMS9, congenital myasthenic syndrome caused by mutation in MUSK, congenital myasthenic syndrome type 9, MUSK congenital myasthenic syndrome — per MONDO